← 返回搜尋

Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome

ORPHA:2435 · Disease · Disorder

HPO 表現型（共 8 項）

Very frequent (99-80%)(4)

  • Hypopigmented skin patchesHP:0001053
  • Irregular hyperpigmentationHP:0007400
  • MaculeHP:0012733
  • Melanocytic nevusHP:0000995

Frequent (79-30%)(2)

  • Intellectual disabilityHP:0001249
  • Short statureHP:0004322

Occasional (29-5%)(2)

  • Abnormal rib morphologyHP:0000772
  • MicrocephalyHP:0000252